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Lamellar ichthyosis with a novel homozygous C‐terminal mutation in the transglutaminase‐1 gene
Author(s) -
RodríguezPazos Laura,
Ginarte Manuel,
VegaGliemmo Ana,
Toribio Jaime
Publication year - 2009
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/j.1365-4632.2009.04223.x
Subject(s) - lamellar ichthyosis , ichthyosis , mutation , phenotype , genetics , hyperkeratosis , gene , tissue transglutaminase , gene mutation , dyskeratosis , medicine , genotype , compound heterozygosity , congenital ichthyosis , enzyme , biology , biochemistry
Background The majority of cases of Lamellar ichthyosis (LI) are caused by mutations in the transglutaminase‐1 ( TGM1 ) gene. The mutations in the β‐barrel domains of the TGM1 gene are found very infrequently and several authors have suggested that these domains are not essential for the function of the enzyme. Other authors have postulated that mutations in these loci are pathogenic but they imply a less severe clinical picture of LI. Case report We report a patient with a severe phenotype of LI who had a homozygous mutation affecting the β‐barrel 2 domain of the TGM1. Conclusions This finding indicates that the integrity of β‐barrel domains is important for the correct function of the enzyme and that we are still far away from a consistent genotype‐phenotype correlation.